Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis

por Fozia, Fozia, Nazli, Rubina, Alam Khan, Sher, Bari, Ahmed, Nasir, Abdul, Ullah, Riaz, Mahmood, Hafiz Majid, Sohaib, Muhammad, Alobaid, Abdulrahman, Ansari, Siddique A., Basit, Sulman, Khan, Saadullah
Publicado 2021

Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Fami...

por Fozia, Fozia, Nazli, Rubina, Alrashed, May Mohammed, Ghneim, Hazem K., Haq, Zia Ul, Jabeen, Musarrat, Alam Khan, Sher, Ahmad, Ijaz, Bourhia, Mohammed, Aboul-Soud, Mourad A. M.
Publicado 2022

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

por Doll, Julia, Vona, Barbara, Schnapp, Linda, Rüschendorf, Franz, Khan, Imran, Khan, Saadullah, Muhammad, Noor, Alam Khan, Sher, Nawaz, Hamed, Khan, Ajmal, Ahmad, Naseer, Kolb, Susanne M., Kühlewein, Laura, Labonne, Jonathan D. J., Layman, Lawrence C., Hofrichter, Michaela A. H., Röder, Tabea, Dittrich, Marcus, Müller, Tobias, Graves, Tyler D., Kong, Il-Keun, Nanda, Indrajit, Kim, Hyung-Goo, Haaf, Thomas
Publicado 2020